MCID: PHC018
MIFTS: 39

Phace Association

Categories: Cardiovascular diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Phace Association

MalaCards integrated aliases for Phace Association:

Name: Phace Association 57 19 75 71
Phace Syndrome 19 58 5 75
Pascual-Castroviejo Syndrome Type 2 19 58
Phaces Association 57 19
Posterior Fossa Brain Malformations, Hemangiomas of the Face, Arterial Anomalies, Cardiac Anomalies, and Eye Abnormalities 19
Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas 19
Raphe, Supraumbilical Midline, with Cavernous Facial Hemangiomas 19
Hemangiomas Cavernous of Face Supraumbilical Midline Raphe 19
Sternal Nonunion with Supraumbilical Raphe 19
Pascual-Castroviejo Type Ii Syndrome 19
Aortic Aneurysm, Giant Congenital 57
Phaces Syndrome 58
P-Ciis 19

Characteristics:


Inheritance:

Phace Association: Isolated cases 57
Phace Syndrome: X-linked dominant 58

Prevelance:

Phace Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Phace Syndrome: Antenatal,Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
phace is an acronym for posterior fossa brain malformation, large facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, and eye abnormalities
87% patients are female


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare circulatory system diseases
Rare cardiac malformations
Developmental anomalies during embryogenesis


Summaries for Phace Association

Orphanet: 58 PHACE is an acronym used to describe a syndrome characterised by the association of Posterior fossa brain malformations, large facial Haemangiomas, anatomical anomalies of the cerebral Arteries, aortic coarctation and other Cardiac anomalies, and Eye abnormalities. Sternal anomalies are also sometimes present, and in these cases the syndrome is referred to as PHACES. Two additional manifestations have recently been added to the clinical spectrum of PHACE syndrome: stenosis of the vessels at the base of the skull and segmental longitudinal dilations of the internal carotid artery.

MalaCards based summary: Phace Association, also known as phace syndrome, is related to hemangiomas, cavernous, of face and supraumbilical midline raphe and cerebral cortical dysplasia, and has symptoms including seizures An important gene associated with Phace Association is BRAF (B-Raf Proto-Oncogene, Serine/Threonine Kinase). Affiliated tissues include eye, brain and heart, and related phenotypes are abnormal cerebral artery morphology and glaucoma

GARD: 19 PHACE syndrome is the association of a large hemangioma, usually on the face or neck, in combination with one or more other birth defects. People with PHACE syndrome may have posterior fossa brain malformations, hemangioma, arterial lesions (blood vessel abnormalities in the head or neck), cardiac (heart) abnormalities/aortic coarctation, and eye abnormalities. Symptoms and symptom severity may vary from person to person. The cause of the condition is currently unknown.

OMIM®: 57 PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011). (606519) (Updated 08-Dec-2022)

Wikipedia: 75 PHACE syndrome is a cutaneous condition characterized by multiple congenital abnormalities. The mnemonic... more...

Related Diseases for Phace Association

Diseases related to Phace Association via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 138)
# Related Disease Score Top Affiliating Genes
1 hemangiomas, cavernous, of face and supraumbilical midline raphe 11.7
2 cerebral cortical dysplasia 10.3
3 microphthalmia 10.3
4 transient cerebral ischemia 10.3
5 heart septal defect 10.2
6 posterior fossa malformation 10.2
7 hemangioma 10.2
8 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.2
9 children's interstitial lung disease 10.2
10 capillary malformations, congenital 10.1
11 ptosis 10.1
12 ventricular septal defect 10.1
13 atrial heart septal defect 10.1
14 pituitary gland disease 10.1
15 interatrial communication 10.1
16 gastroenteritis 10.1
17 amblyopia 10.1
18 ectopia cordis 10.1
19 cerebral cavernous malformations 10.0
20 hypogonadotropic hypogonadism 7 with or without anosmia 10.0
21 retinoblastoma 10.0
22 strabismus 10.0
23 persistent hyperplastic primary vitreous, autosomal recessive 10.0
24 papillon-lefevre syndrome 10.0
25 moyamoya disease 1 10.0
26 fanconi anemia, complementation group e 10.0
27 congenital hypothyroidism 10.0
28 hypogonadotropic hypogonadism 10.0
29 sensorineural hearing loss 10.0
30 pre-eclampsia 10.0
31 fourth cranial nerve palsy 10.0
32 hydrocephalus 10.0
33 horner's syndrome 10.0
34 eclampsia 10.0
35 vascular disease 10.0
36 hypogonadism 10.0
37 cataract 10.0
38 aortic arch interruption 10.0
39 internal carotid agenesis 10.0
40 sternal cleft 10.0
41 congenital oculomotor nerve palsy 10.0
42 cerebellar hypoplasia 9.9
43 hypothyroidism 9.9
44 capillary hemangioma 9.9
45 growth hormone deficiency 9.9
46 carcinoid tumors, intestinal 9.9
47 intussusception 9.9
48 arachnoid cysts, intracranial 9.9
49 hemihyperplasia, isolated 9.9
50 sclerocornea 9.9

Graphical network of the top 20 diseases related to Phace Association:



Diseases related to Phace Association

Symptoms & Phenotypes for Phace Association

Human phenotypes related to Phace Association:

58 30 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal cerebral artery morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0009145
2 glaucoma 58 30 Frequent (33%) Frequent (79-30%)
HP:0000501
3 microphthalmia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000568
4 abnormal cardiac septum morphology 58 30 Frequent (33%) Frequent (79-30%)
HP:0001671
5 dandy-walker malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0001305
6 optic nerve hypoplasia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000609
7 cerebral arteriovenous malformation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002408
8 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
9 agenesis of corpus callosum 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001274
10 ptosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000508
11 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
12 hypotonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001252
13 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
14 global developmental delay 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001263
15 microcephaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000252
16 strabismus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000486
17 coarctation of aorta 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001680
18 hemiplegia/hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004374
19 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
20 tetralogy of fallot 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001636
21 amblyopia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000646
22 heterochromia iridis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001100
23 sclerocornea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000647
24 capillary hemangioma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005306
25 visceral angiomatosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100761
26 aortic root aneurysm 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002616
27 ectopic thyroid 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100028
28 retinal vascular malformation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007797
29 lens coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100719
30 abnormality of the orbital region 30 Occasional (7.5%) HP:0000315
31 abnormal sternum morphology 30 Occasional (7.5%) HP:0000766
32 abnormal carotid artery morphology 30 Occasional (7.5%) HP:0005344
33 optic atrophy 30 HP:0000648
34 patent ductus arteriosus 30 HP:0001643
35 ventricular septal defect 30 HP:0001629
36 abnormality of the carotid arteries 58 Occasional (29-5%)
37 arterial stenosis 30 HP:0100545
38 migraine 30 HP:0002076
39 cerebellar hypoplasia 58 Occasional (29-5%)
40 abnormality of the sternum 58 Occasional (29-5%)
41 abnormal heart morphology 58 Frequent (79-30%)
42 aortic aneurysm 30 HP:0004942
43 congenital hypothyroidism 30 HP:0000851
44 horner syndrome 30 HP:0002277
45 developmental cataract 30 HP:0000519
46 abnormality of the ocular region 58 Occasional (29-5%)
47 cavernous hemangioma of the face 30 HP:0007486
48 anomalous branches of internal carotid artery 30 HP:0005314
49 plaque-like facial hemangioma 30 HP:0007434
50 increased retinal vascularity 30 HP:0007986

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Head And Neck Eyes:
optic atrophy
optic nerve hypoplasia
increased retinal vascularity
congenital cataract
horner's syndrome
more
Neurologic Central Nervous System:
dandy-walker malformation
cerebellar hypoplasia
seizures
developmental delay
cerebral infarction
more
Head And Neck Face:
facial hemangioma

Respiratory Larynx:
subglottic hemangioma

Abdomen External Features:
supraumbilical abdominal raphe

Cardiovascular Vascular:
patent ductus arteriosus
arterial stenosis
anomalous branches of internal carotid artery
coarctation of the aorta
steal syndrome
more
Cardiovascular Heart:
ventricular septal defect

Endocrine Features:
congenital hypothyroidism
lingual thyroid

Chest Ribs Sternum Clavicles And Scapulae:
sternal clefting
sternal pits

Skin Nails Hair Skin:
hemangioma, facial, plaque-like

Clinical features from OMIM®:

606519 (Updated 08-Dec-2022)

UMLS symptoms related to Phace Association:


seizures

Drugs & Therapeutics for Phace Association

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Longitudinal Study of Neurologic, Cognitive, and Radiologic Outcomes in PHACE Syndrome Completed NCT01018082
2 Genetic Analysis of PHACE Syndrome.(PHACE Syndrome is Defined as a Hemangioma Plus One or More of the Following: Brain, Heart, Eye, Sternal or Cerebral Artery Anomalies). Recruiting NCT01016756
3 Pathogenetic Basis of Aortopathy and Aortic Valve Disease Recruiting NCT03440697
4 PHACE - Prospective Genetic Investigation Enrolling by invitation NCT05133245

Search NIH Clinical Center for Phace Association

Genetic Tests for Phace Association

Anatomical Context for Phace Association

Organs/tissues related to Phace Association:

MalaCards : Eye, Brain, Heart, Thyroid, Skin, Pituitary

Publications for Phace Association

Articles related to Phace Association:

(show top 50) (show all 344)
# Title Authors PMID Year
1
PHACE syndrome: MRI of intracerebral vascular anomalies and clinical findings in a series of 12 patients. 62 57
21674285 2011
2
Cervical and intracranial arterial anomalies in 70 patients with PHACE syndrome. 62 57
20705698 2010
3
Consensus Statement on Diagnostic Criteria for PHACE Syndrome. 62 57
19858157 2009
4
A prospective study of PHACE syndrome in infantile hemangiomas: demographic features, clinical findings, and complications. 62 57
16575892 2006
5
Infantile orofacial hemangioma with ipsilateral peripapillary excavation in girls: a variant of the PHACE syndrome. 62 57
15006868 2004
6
Report of a child with aortic aneurysm, orofacial clefting, hemangioma, upper sternal defect, and marfanoid features: possible PHACE syndrome. 62 57
12116239 2002
7
The many faces of PHACE syndrome. 62 57
11445804 2001
8
PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review. 62 57
10485544 1999
9
PHACE syndrome. The association of posterior fossa brain malformations, hemangiomas, arterial anomalies, coarctation of the aorta and cardiac defects, and eye abnormalities. 62 57
8607636 1996
10
Giant congenital aortic aneurysm with cleft sternum, supraumbilical raphé, and hemangiomatosis: report and review. 57
10678663 2000
11
Sternal cleft associated with vascular anomalies and micrognathia. 57
8328853 1993
12
Aneurysm of the ascending aorta associated with sternal cleft, cutaneous hemangioma, and occlusion of the right innominate artery in a neonate. 57
3541557 1987
13
Vascular and nonvascular intracranial malformation associated with external capillary hemangiomas. 57
740218 1978
14
Intracranial hemangioma-associated cranial nerve VII palsy treated with propranolol in an infant with possible PHACE syndrome. 62
36271758 2022
15
Sirolimus for diffuse intestinal infantile hemangioma with PHACE features: systematic review. 62
36180586 2022
16
The Forgotten Phacomatoses: A Neuroimaging Review of Rare Neurocutaneous Disorders. 62
34607749 2022
17
Fetal neuroimaging findings in PHACE syndrome: case report and review of the literature. 62
32723018 2022
18
Ophthalmic involvement in PHACES syndrome: prevalence, spectrum of anomalies, and outcomes. 62
35550864 2022
19
The VASCERN-VASCA working group diagnostic and management pathways for severe and/or rare infantile hemangiomas. 62
35487416 2022
20
The riddle of PHACE syndrome. 62
35289438 2022
21
Corrigendum Candidate Gene Locus for PHACE Syndrome. Am J Med Genet A. 2012;158(6):1363-1367. Doi:10.1002/ajmg.a.35341. 62
34936201 2022
22
Operative Surveillance of Airway Hemangiomas in PHACE Syndrome. 62
35227100 2022
23
Successful Management in an Infant Patient of PHACE Syndrome with a Complicated Aortic Arch Anomaly. 62
36059580 2022
24
Infantile hemangiomas: risk factors for complications, recurrence and unaesthetic sequelae. 62
34848114 2022
25
Phace Syndrome in Children: Two Case Reports. 62
34703511 2021
26
PHACE Syndrome in a Child with Structural Malformations of the Brain. 62
34849278 2021
27
Infantile hemangioma. Part 1: Epidemiology, pathogenesis, clinical presentation and assessment. 62
34419524 2021
28
Infantile haemangiomas: Identifying high-risk lesions in primary care. 62
34845464 2021
29
PHACE syndrome: A remarkable phakomatosis. 62
34175248 2021
30
Truncus arteriosus as presentation of PHACE syndrome. 62
34518186 2021
31
Neuroaxial Infantile Hemangiomas: Imaging Manifestations and Association with Hemangioma Syndromes. 62
34244133 2021
32
PHACES Syndrome and Associated Anomalies: Risk Associated With Small and Large Facial Hemangiomas. 62
34036811 2021
33
Neonatal presentation of PHACE syndrome. 62
34253534 2021
34
Scepter-Mini Balloon Assisted Coil Embolization of an Intracranial Arterial Aneurysm in a Child with PHACE Syndrome via a Persistent Trigeminal Artery. 62
34167289 2021
35
Airway Hemangiomas in PHACE Syndrome: A Multicenter Experience. 62
33076780 2021
36
Association of Demographic Factors and Infantile Hemangioma Characteristics With Risk of PHACE Syndrome. 62
34132754 2021
37
PHACE Syndrome Presenting as Transient Ischemic Attack. 62
34169890 2021
38
Arteriopathy in pediatric stroke: an underestimated clinical entity. 62
34133513 2021
39
Nd:YAG laser in association with pulsed dye laser for the treatment of PHACES syndrome. 62
33824704 2021
40
Are pediatric patients with PHACE association at high risk for anesthetic complications? 62
33078456 2021
41
Persistent second cervical intersegmental artery in a case of possible PHACE syndrome. 62
32726171 2021
42
Management of Upper Airway Infantile Hemangiomas: Experience of One Italian Multidisciplinary Center. 62
34950613 2021
43
PHACE Syndrome Presenting With Retinal Degeneration, Cortical Dysplasia, Microphthalmia, and Atrial Septal Defect in a South Asian Boy. 62
33654609 2021
44
Vascular Birthmarks as a Clue for Complex and Syndromic Vascular Anomalies. 62
34692608 2021
45
Arterial Spin-Labeling Perfusion for PHACE Syndrome. 62
33214180 2021
46
Posterior Mediastinal and Cutaneous Back Hemangiomas in Infants: A New Association. 62
34007781 2021
47
PHACE syndrome: importance of distinguishing infantile haemangioma from capillary malformation. 62
32522758 2020
48
PHACES Syndrome with Intestinal Hemangioma Causing Recurrent Intussusceptions: A Case Report and Literature Review of Associated Intestinal Hemangioma. 62
33403127 2020
49
PHACE syndrome in a preterm infant. 62
32913025 2020
50
Unrelenting facial segmental hemangiomas: A case series of late growth and recurrent ulcerations. 62
32639025 2020

Variations for Phace Association

ClinVar genetic disease variations for Phace Association:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRAF NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) SNV Pathogenic
13980 rs180177041 GRCh37: 7:140476806-140476806
GRCh38: 7:140777006-140777006

Copy number variations for Phace Association from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 220052 7 133600015 133700204 Deletion SLC35B4 PHACE syndrome

Expression for Phace Association

Search GEO for disease gene expression data for Phace Association.

Pathways for Phace Association

GO Terms for Phace Association

Sources for Phace Association

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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